Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Surveillance for adverse health effects following a chemical release in west virginia

On 11 August 1985, a large inadvertent release occurred from a chemical manufacturing plant in Institute, West Virginia. The emission was related to overheating of a storage tank that contained chemicals for the production of aldicarb, a cholinesterase inhibiting pesticide. As a result of this emission, 136 persons were treated in five local emergency rooms, 29 of whom were hospitalized for one or more days, mostly for observation. No fatalities resulted. Interviews with treated persons and non-treated community residents confirmed that the health effects were transient and compatible with exposure to irritating vapors rather than with exposure to methyl isocyanate (a chemical used in the process) or to aldicarb. Only 5% of the treated persons and 5% of the community residents surveyed were adequately warned of the emission by the plant siren. Because persons in the nearby community are potentially vulnerable to chemical injury, we recommend the development of an improved warning system, a formal evacuation procedure, and other measures to limit exposure of persons in this area in the event of a future release.     

Lipid content of some Caribbean corals in relation to depth and light

Three procedures for the extraction of coral lipids were compared and a rapid and effective method for future use is suggested. This method was used to measure the lipid content of the branching coral Porites porites (Pallas) and the massive corals Montastrea annularis (Ellis and Solander) and Siderastrea siderea (Ellis and Solander) during July and August 1991. P. porites and M. annularis were sampled on two fringing reefs, each characterised by different water quality affecting light transmission, and at depths of down to 30 m on a barrier reef on the west coast of the island. m. annularis contained, on average, 29% of dry weight as lipid, and there were no significant differences in lipid levels between corals sampled on either fringing reef at 3 and 6 m, or between fringing reefs and the barrier reef at 13, 20 or 30 m depth. Five samples were also taken from a single massive colony of S. siderea at 3 m on a fringing reef and at 13, 20 and 30 m depth on the barrier reef. Values for lipid ranged from 26 to 35% of dry tissue weight. P. porites from 3 and 6 m depth on both fringing reefs contained the same amount of lipid (11% of dry tissue weight). However, at 13 m depth on the barrier reef this coral contained significantly less lipid (8.5% of dry tissue weight). This difference may be attributable to a higher nutritional intake by P. porites on the fringing reefs.     

Contribution of canopy leaching to sulphate deposition in a Scots pine forest

Radioactive sulphate (35SO4) was applied to the soil below a Scots pine forest on 23 June 1989, and its movement into the canopy and into throughfall and stemflow was measured over 4 months. The specific activity, Bq (mg S)(-1), of the canopy increased monotonically; uptake by current-year (1989) expanding needles was initially twice as fast as by older needles or live twigs. By 10 October the canopy average specific activity was 62 Bq (mg S)(-1). The specific activity of net throughfall (throughfall + stemflow - rain), deduced from measurements from six throughfall collectors, six stemflow collectors and two rain collectors, fell rapidly from 12.6 Bq (mg S)(-1) in late July to <1 Bq (mg S)(-1) in mid-August. The results suggest (assuming rapid equilibration of 35S with sulphate in soil) that root-derived sulphate contributed c. 3% of sulphate in net throughfall and that dry deposition of SO2 and sulphate particles contributed c. 97% of the 0.56 g S m(-2) measured in net throughfall over the period. Simultaneous measurements of SO2 at canopy height and of NH3 above and within the canopy gave mean concentrations of 5.9 and 0.86 microg m(-3), respectively, sufficient to account for the sulphate measured in net throughfall only if codeposition of NH3 and SO2 occurred to canopy surfaces. The large values of specific activity observed in July, however, indicate that throughfall composition may be closely related to recent soil input of sulphate, and that equilibrium cannot be safely assumed. The possibility of a significant contribution of soil-derived sulphate to sulphate deposition in net throughfall cannot be ruled out on the basis of this experiment.